Study Related Publications

Savage SA, Dokal I, Armanios M, Aubert G, Cowen EW, Domingo DL, Giri N, Greene MH, Orchard PJ, Tolar J, Tsilou E, Van Waes C, Wong JM, Young NS, Alter BP: Dyskeratosis congenita: The first NIH clinical research workshop. Pediatr Blood Cancer 2009 May 4.

Alter BP, Giri N, Savage SA, Rosenberg PS: Cancer in dyskeratosis congenita. Blood 2009 Apr 7.

Savage SA, Alter BP: Dyskeratosis congenita. Hematol Oncol Clin North Am 2009 Apr;23(2):215-31.

Al-Rahawan MM, Alter BP, Bryant BJ, Elghetany MT: Bone marrow cell cycle markers in inherited bone marrow failure syndromes. Leuk Res 2008 Dec;32(12):1793-9.

Denny CC, Wilfond BS, Peters JA, Giri N, Alter BP: All in the family: disclosure of "unwanted" information to an adolescent to benefit a relative. Am J Med Genet A 2008 Nov 1;146A(21):2719-24.

Vlachos A, Ball S, Dahl N, Alter BP, Sheth S, Ramenghi U, Meerpohl J, Karlsson S, Liu JM, Leblanc T, Paley C, Kang EM, Leder EJ, Atsidaftos E, Shimamura A, Bessler M, Glader B, Lipton JM; Participants of Sixth Annual Daniella Maria Arturi International Consensus Conference: Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. Br J Haematol 2008 Sep;142(6):859-76.

Atkinson JC, Harvey KE, Domingo DL, Trujillo MI, Guadagnini JP, Gollins S, Giri N, Hart TC, Alter BP: Oral and dental phenotype of dyskeratosis congenita. Oral Dis 2008 Jul;14(5):419-27.

Rosenberg PS, Alter BP, Ebell W: Cancer risks in Fanconi anemia: findings from the German Fanconi Anemia Registry. Haematologica 2008 Apr;93(4):511-7.

Rosenberg PS, Alter BP, Link DC, Stein S, Rodger E, Bolyard AA, Aprikyan AA, Bonilla MA, Dror Y, Kannourakis G, Newburger PE, Boxer LA, Dale DC: Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia. Br J Haematol 2008 Jan;140(2):210-3.

Savage SA, Alter BP: The role of telomere biology in bone marrow failure and other disorders. Mechanisms of Aging and Development 129:35-47, 2008.

Savage SA, Giri N, Baerlocher GM, Orr N, Lansdorp PM, Alter BP: TINF2, a component of the shelterin telomere protection complex, is mutated in Dyskeratosis Congenita. American Journal of Human Genetics 82:501-509, 2008.

Alter BP, Lipton JM: Anemia, Fanconi. eMedicine Journal [serial online]. Updated, 2007.

Alter BP, Rosenberg PS, Brody L: Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. Journal of Medical Genetics 44:1-9, 2007.

Alter BP, Rosenberg PS: Granulocyte-colony stimulating factor and aplastic anemia. Blood 109:4589, 2007.

Alter BP, Baerlocher G, Savage SA, Chanock SJ, Weksler BB, Willner J, Peters JA, Giri N, Lansdorp PM: Very short telomere by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita. Blood 110:1439-1447, 2007.

Alter BP: Diagnosis, genetics, and management of inherited bone marrow failure syndromes. Hematology (Am Soc Hematol Educ Program). 2007:29-39.

Giri N, Batista D, Alter BP, Stratakis CA: Endocrine Abnormalities in Patients with Fanconi Anemia. Journal of Clinical Endocrinology and Metabolism 92:2624-2631, 2007.

Giri N, Pitel PA, Green D, Alter BP: Splenic peliosis and rupture in patients with dyskeratosis congenita on androgens and granulocyte-colony stimulating factor. British Journal of Haematology 138:815-817, 2007.

Hutson SP, Alter BP: Experiences of Siblings of Patients with Fanconi's Anemia. Pediatric Blood & Cancer 48:72-79, 2007.

Rosenberg PS, Alter BP, Link DC, Stein S, Rodger E, Bolyard AA, Aprikyan AA, Bonilla MA, Dror Y, Kannourakis G, Newburger PE, Boxer LA, Dale DC: Neutrophil elastase mutations and risk of leukemia in severe congenital neutropenia. British Journal of Haematology 140:210-213, 2007.

Tamary H and Alter BP: Current Diagnosis of Inherited Bone Marrow Failure Syndromes. Pediatric Hematology and Oncology 24:87-99, 2007.

Al-Rahawan MM, Giri N, Alter BP: Intensive immunosuppression therapy for aplastic anemia associated with Dyskeratosis Congenita. International Journal of Hematology 83:275-276, 2006.

Alter BP: Inherited Forms of Aplastic Anemia: the Inherited Bone Marrow Failure Syndromes (IBMFS). In: Current Pediatric Therapy, 18^th edition, FD Burg, JR Ingelfinger, RA Polin, AA Gershon, eds, Elsevier, Philadelphia, 2006, pp 938-941.

Alter BP: The Association between FANCD1/BRCA2 Mutations and Leukemia. British Journal of Haematology 133:446-448, 2006.

Bagby GC, Alter BP: Fanconi Anemia. Seminars in Hematology 43:147-156, 2006.

Braun M, Giri N, Alter BP and Cowen EW: Thrombocytopenia, multiple mucosal squamous cell cancers, and dyspigmentation. Journal of the American Academy of Dermatology 54:1056-1059, 2006.

Dale DC, Rosenberg PS, Alter BP: To the Editor: Lineage-specific hematopoietic growth factors. New England Journal of Medicine 355:526-527, 2006.

Dale DC, Bolyard AA, Schwinzer BG, Pracht G, Bonilla MA, Boxer L, Freedman MH, Donadieu J, Kannourakis G, Alter BP, Cham BP, Winkelstein J, Kinsey SE, Zeidler C, Welte K: The Severe Chronic Neutropenia International Registry: 10-year follow-up report. Supportive Cancer Therapy 3:220-231, 2006.

Giri N, Alter BP: Acquired Aplastic Anemia. In: Current Pediatric Therapy, 18^th edition, FD Burg, JR Ingelfinger, RA Polin, AA Gershon, eds, Elsevier, Philadelphia, 2006, pp 942-944.

Rosenberg PS, Alter BP, Bolyard AA, Bonilla MA, Boxer LA, Cham B, Fier C, Freedman M, Kannourakis G, Kinsey S, Schwinzer B, Zeidler C Welte K, Dale DC: The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy. Blood 2006; 107(12):4628-35.

Savage SA, Chanock SJ, Stewart BJ, Weksler BB, Alter BP: Mutations in the Reverse Transcriptase Component of Telomerase (TERT) in Patients with Bone Marrow Failure. Letter to the Editor. Blood Cells, Molecules, and Disease 37:134-136, 2006.

Alter BP, Lipton JM: Anemia, Fanconi. eMedicine Journal [serial online]. Updated, 2005.

Alter BP: Bone Marrow Failure: A Child Is Not Just a Small Adult (But an Adult May Have a Childhood Disease). Hematology (Am Soc Hematol Educ Program) 2005; 96-103.

Alter BP: Diamond-Blackfan Anemia: A “Cultural” Diagnosis. Blood 2005; 105:435-436.

Alter BP, Joenje H, Oostra AB, Pals G: Fanconi Anemia: Adult Head and Neck Cancer and Hematopoietic Mosaicism. Archives of Otolaryngology-Head & Neck Surgery 2005; 131:635-639.

Alter BP: Fanconi’s Anemia, transplantation, and cancer. Pediatric Transplantation 2005; 9 (Suppl. 7):81-86.

Rosenberg PS, Socié G, Alter BP, Gluckman E: Risk of squamous cell cancer and death in patients with Fanconi anemia who did and did not receive transplants. Blood 2005; 105:67-73.

Rosenberg PS, Alter BP, Socié G, Gluckman E: Secular Trends in Outcomes for Fanconi Anemia Patients Who Receive Transplants: Implications for Future Studies. Biology of Blood and Bone Marrow Transplantation 2005; 11:672-679.

Alter BP: Growth Hormone and the Risk of Malignancy. Pediatric Blood & Cancer 2004; 43:534-535.

Rosenberg PS, Huang Y, Alter BP: Individualized risk of adverse events in Fanconi anemia. Blood 2004; 104:350-355.

Tong BC, Dhir K, Ha PK, Westra WH, Alter BP, Sidransky D, Koch WM, Califano JA: Use of Single Nucleotide Polymorphism Arrays to Identify a Novel Region of Loss on Chromosome 6Q in Squamous Cell Carcinomas of the Oral Cavity. Head Neck - J Sci Spec 2004; 26 (4):345-352.

Velazquez I, Alter BP: Androgens and Liver Tumors: Fanconi’s Anemia and Non-Fanconi’s Conditions. American Journal of Hematology 2004; 77:257-267.

Alter BP, Lipton JM: Bone marrow failure syndromes. In: Rudolph's Pediatrics, 21st edition, Appleton Lange, Norwalk, CT, 2003, pp 1562-1567.

Alter BP: Cancer in Fanconi Anemia, 1927-2001. Cancer 2003; 97:425-440.

Alter BP, Greene MH, Velazquez I, Rosenberg PS: Cancer in Fanconia Anemia. Blood 2003; 101:2072-2073. (letter).

Alter BP and Elghetany MT: The CCC System – is it really the answer to pediatric MDS? Journal of Pediatric Hematology/Oncology 25: 426-427, 2003 (letter).

Alter BP: Diamond-Blackfan Anemia. The NORD Guide to Rare Disorders, Lippincott, Williams and Wilkins, Philadelphia, PA, 2003. p 365.

Alter BP: Inherited Bone Marrow Failure Syndromes. Nathan and Oski’s Hematology of Infancy and Childhood, sixth edition, DG Nathan, SH Orkin, AT Look, D Ginsburg, eds, WB Saunders Inc, Philadelphia, 2003, pp 280-365.

Alter BP, D’Andrea AD: Inherited Bone Marrow Failure Syndromes. Blood: Principles and Practice of Hematology, second edition, RI Handin, SE Lux, TP Stossel, eds, JB Lippincott, Philadelphia, PA, 2003, pp 209-272.

Alter BP: Fanconi Anemia. The NORD Guide to Rare Disorders, Lippincott, Williams and Wilkins, Philadelphia , PA, 2003. p 366.

Rosenberg PS, Greene MH, Alter BP: Cancer Incidence in persons with Fanconi anemia. Blood 2003; 101:822-826.

Alter BP: Bone marrow failure syndromes in children. Pediatric Clinics of North America 2002; 49:973-988.

Alter BP: Radiosensitivity in Fanconi’s anemia patients. Radiotherapy and Oncology 2002; 62:345-347.

Elghetany MT, Alter BP: p53 Protein Overexpression in Bone Marrow of Patients With Shwachman-Diamond Syndrome Has a Prevalence Similar to That of Patients With Refractory Anemia: Archives of Pathology and Laboratory Medicine 2002; 126:452-455.

Freedman MH, Alter BP: Malignant Myeloid Transformation in Congenital Forms of Neutropenia. Israeli Medical Association Journal 2002; 4:1011-1014.

Freedman MH and Alter BP: Risk of Myelodysplastic Syndrome and Acute Myeloid Leukemia in Congenital Neutropenias. Seminars in Hematology 2002; 39:128-133.

Rothbaum R, Perrault J, Vlachos A, Cipolli M, Alter BP, Burroughs S, Durie P, Elghetany MT, Grand R, Hubbard V, Rommens J, Rossi T. Shwachman-Diamond syndrome: Report from an international conference. Journal of Pediatrics 2002; 141:266-270.

Alter BP: Modern Review of Congenital Hypoplastic Anemia. Journal of Pediatric Hematology/Oncology 2001; 23:383-384.